gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177017_177019del , CM000678.2:g.177017_177019del | GRCh38 |
| NC_000016.9:g.227016_227018del , CM000678.1:g.227016_227018del | GRCh37 |
| NC_000016.8:g.167016_167018del | NCBI36 |
| NG_000006.1:g.37880_37882del | |
| NG_059186.1:g.5367_5369del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.184_186del MANE Select | ENSP00000322421.5:p.Lys62del | |
| ENST00000397797.1:c.88_90del | ENSP00000380899.1:p.Lys30del | |
| ENST00000472694.1:n.320_322del | ||
| ENST00000487791.1:n.153_155del | ||
| NM_000558.4:c.184_186del | NP_000549.1:p.Lys62del | |
| NM_000558.5:c.184_186del MANE Select | NP_000549.1:p.Lys62del |